FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 27593

FusionGeneSummary for PLEKHA6_DCAF5

check button Fusion gene summary
Fusion gene informationFusion gene name: PLEKHA6_DCAF5
Fusion gene ID: 27593
HgeneTgene
Gene symbol

PLEKHA6

DCAF5

Gene ID

22874

8816

Gene namepleckstrin homology domain containing A6DDB1 and CUL4 associated factor 5
SynonymsPEPP-3|PEPP3BCRG2|BCRP2|D14S1461E|WDR22
Cytomap

1q32.1

14q24.1

Type of geneprotein-codingprotein-coding
Descriptionpleckstrin homology domain-containing family A member 6PH domain-containing family A member 6phosphoinositol 3-phosphate-binding protein 3DDB1- and CUL4-associated factor 5WD repeat-containing protein 22breakpoint cluster region protein, uterine leiomyoma, 2
Modification date2018051920180519
UniProtAcc

Q9Y2H5

Q96JK2

Ensembl transtripts involved in fusion geneENST00000272203, ENST00000414478, 
ENST00000485632, 
ENST00000341516, 
ENST00000554215, ENST00000556847, 
ENST00000557386, ENST00000389997, 
ENST00000553293, 
Fusion gene scores* DoF score13 X 12 X 5=7808 X 7 X 6=336
# samples 149
** MAII scorelog2(14/780*10)=-2.47804729680464
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/336*10)=-1.90046432644909
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PLEKHA6 [Title/Abstract] AND DCAF5 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVLGGTCGA-DU-6403-01APLEKHA6chr1

204234070

-DCAF5chr14

69542128

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shiftENST00000272203ENST00000341516PLEKHA6chr1

204234070

-DCAF5chr14

69542128

-
Frame-shiftENST00000272203ENST00000554215PLEKHA6chr1

204234070

-DCAF5chr14

69542128

-
Frame-shiftENST00000272203ENST00000556847PLEKHA6chr1

204234070

-DCAF5chr14

69542128

-
Frame-shiftENST00000272203ENST00000557386PLEKHA6chr1

204234070

-DCAF5chr14

69542128

-
5CDS-intronENST00000272203ENST00000389997PLEKHA6chr1

204234070

-DCAF5chr14

69542128

-
5CDS-5UTRENST00000272203ENST00000553293PLEKHA6chr1

204234070

-DCAF5chr14

69542128

-
Frame-shiftENST00000414478ENST00000341516PLEKHA6chr1

204234070

-DCAF5chr14

69542128

-
Frame-shiftENST00000414478ENST00000554215PLEKHA6chr1

204234070

-DCAF5chr14

69542128

-
Frame-shiftENST00000414478ENST00000556847PLEKHA6chr1

204234070

-DCAF5chr14

69542128

-
Frame-shiftENST00000414478ENST00000557386PLEKHA6chr1

204234070

-DCAF5chr14

69542128

-
5CDS-intronENST00000414478ENST00000389997PLEKHA6chr1

204234070

-DCAF5chr14

69542128

-
5CDS-5UTRENST00000414478ENST00000553293PLEKHA6chr1

204234070

-DCAF5chr14

69542128

-
intron-3CDSENST00000485632ENST00000341516PLEKHA6chr1

204234070

-DCAF5chr14

69542128

-
intron-3CDSENST00000485632ENST00000554215PLEKHA6chr1

204234070

-DCAF5chr14

69542128

-
intron-3CDSENST00000485632ENST00000556847PLEKHA6chr1

204234070

-DCAF5chr14

69542128

-
intron-3CDSENST00000485632ENST00000557386PLEKHA6chr1

204234070

-DCAF5chr14

69542128

-
intron-intronENST00000485632ENST00000389997PLEKHA6chr1

204234070

-DCAF5chr14

69542128

-
intron-5UTRENST00000485632ENST00000553293PLEKHA6chr1

204234070

-DCAF5chr14

69542128

-

Top

FusionProtFeatures for PLEKHA6_DCAF5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PLEKHA6

Q9Y2H5

DCAF5

Q96JK2

May function as a substrate receptor for CUL4-DDB1 E3ubiquitin-protein ligase complex. {ECO:0000269|PubMed:16949367,ECO:0000269|PubMed:16964240}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


Top

FusionGeneSequence for PLEKHA6_DCAF5


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

Top

FusionGenePPI for PLEKHA6_DCAF5


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
PLEKHA6PLEKHA5, APOE, CFTR, MYBPHL, NTRK1, XPO1, CDH1, TRIM25DCAF5DDB1, CUL4A, DDA1, UBC, GRK5, CCDC84, TCP1, CCT7, PFDN4, CCT6B, CCT6A, CCT2, CCT3, PFDN5, HSPD1, PDRG1, PFDN6, VBP1, RWDD2B, SFRP4, LHX4, TSGA10IP, MRPS11, PIP5K1A, DYRK2, EPB41L5, TCF25, SOST, WIBG, ZNF816, NUAK2, ARRB1, PFDN1, GPBP1L1, TYW3, RPS14, CCT5, SPATA24, PTPN21, TRIM25, SIRT7


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


Top

RelatedDrugs for PLEKHA6_DCAF5


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for PLEKHA6_DCAF5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePLEKHA6C0036341Schizophrenia1PSYGENET